Summary

Name CBFbeta-MYH11
Primary ID SIGNOR-FP3
Type Fusion Protein
Formed by P35749, Q13951
Description Inversion of chromosome 16, inv(16)(p13q22) (inv(16)) and the related, but less common translocation t(16;16)(p13;q22), results in a CBFB-MYH11 gene fusion. These rearrangements are associated with nearly all cases of French-American-British (FAB) classified AML subtype M4 with Eosinophilia (M4Eo), which is characterized by the presence of myelomonocytic blasts and atypical eosinophils. Both of these rearrangements generate a fusion between the gene for Core Binding Factor β (CBFB) and the MYH11 gene, which encodes Smooth Muscle Myosin Heavy Chain (SMMHC)1. Expression of CBFB-MYH11 is thought to be the initiating event in inv(16) AML.
Sequence
MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLEREAGKVYLKAPMILNGVCVIWKGWIDLQRLDGMGCLEFDEERAQQEDALAQQAFEEARRRTREFEDRDRSHREEMEVHELEKSKRALETQMEEMKTQLEELEDELQATEDAKLRLEVNMQALKGQFERDLQARDEQNEEKRRQLQRQLHEYETELEDERKQRALAAAAKKKLEGDLKDLELQADSAIKGREEAIKQLRKLQAQMKDFQRELEDARASRDEIFATAKENEKKAKSLEADLMQLQEDLAAAERARKQADLEKEELAEELASSLSGRNALQDEKRRLEARIAQLEEELEEEQGNMEAMSDRVRKATQQAEQLSNELATERSTAQKNESARQQLERQNKELRSKLHEMEGAVKSKFKSTIAALEAKIAQLEEQVEQEAREKQAATKSLKQKDKKLKEILLQVEDERKMAEQYKEQAEKGNARVKQLKRQLEEAEEESQRINANRLKEILLQVEDERKMAEQYKEQAEKGNARVKQLKRQLEEAEEESQRINANRRKLQRELDEATESNEAMGREVNALKSKLRRGNETSFVPSRRSGGRRVIENADGSEEETDTRDADFNGTKASE
Relations 5
Pathways Acute Myeloid Leukemia, Onco-fusion proteins in AML, KIT in AML

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Relations

Regulator Mechanism target score ℹ
+ CBFbeta-MYH11down-regulates activity img/direct_inhibition.png binding TP53 0.2
Publications: 1 Organism: Mus Musculus
Pathways:Acute Myeloid Leukemia, Onco-fusion proteins in AML, KIT in AML
+ CBFbeta-MYH11down-regulates activity img/indirect_inhibition.png relocalization Core Binding Factor complex 0.2
Publications: 1 Organism: Homo Sapiens
+ CBFbeta-MYH11down-regulates img/indirect_inhibition.png Differentiation 0.7
Publications: 1 Organism: Homo Sapiens
Pathways:Acute Myeloid Leukemia, Onco-fusion proteins in AML, KIT in AML
+ CBFbeta-MYH11down-regulates activity img/direct_inhibition.png binding RUNX1 0.2
Publications: 1 Organism: Homo Sapiens
Pathways:Acute Myeloid Leukemia, Onco-fusion proteins in AML, KIT in AML
+ CBFbeta-MYH11down-regulates quantity by repression img/indirect_inhibition.png transcriptional regulation TP53 0.2
Publications: 1 Organism: Mus Musculus
Pathways:Acute Myeloid Leukemia, Onco-fusion proteins in AML, KIT in AML